{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229339",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15659[alleleid]",
        "alleleId": 15659,
        "preferredName": "NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620",
        "RCV": [
          "RCV000000651",
          "RCV000088753"
        ],
        "variationId": 620
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237517_103237531del?assembly=hg19",
        "id": "chr12:g.103237517_103237531del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843739_102843753del?assembly=hg38",
        "id": "chr12:g.102843739_102843753del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62516097",
        "rs": 62516097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102843757,
          "referenceAllele": "CCAGGGGGAGAAGCT",
          "start": 102843742
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843743_102843757del",
        "CM000674.2:g.102843743_102843757del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103237535,
          "referenceAllele": "CCAGGGGGAGAAGCT",
          "start": 103237520
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237521_103237535del",
        "CM000674.1:g.103237521_103237535del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101761665,
          "referenceAllele": "CCAGGGGGAGAAGCT",
          "start": 101761650
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761651_101761665del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78864,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 78849
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78850_78864del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119672,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 119657
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119658_119672del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1220,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "ENSP00000448059.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1092_1106del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1092_1106del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Leu365_Leu369del"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Leu365_Leu369del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1362,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1077_1091del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Leu360_Leu364del",
        "hgvsWellDefined": "ENSP00000303500.2:p.Leu360_Leu364del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 865,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.851_865del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 768,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.754_768del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "ENSP00000448059.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 210,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.196_210del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 621,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.607_621del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280684",
      "coordinates": [
        {
          "allele": "",
          "end": 1578,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "NP_000268.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1164,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1035_1049del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Leu346_Leu350del",
        "hgvsWellDefined": "XP_011536724.1:p.Leu346_Leu350del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280684",
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "NP_000268.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057547604",
      "coordinates": [
        {
          "allele": "",
          "end": 1417,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "NP_001341233.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280684",
      "coordinates": [
        {
          "allele": "",
          "end": 1220,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "NP_000268.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1092_1106del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1092_1106del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Leu365_Leu369del"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Leu365_Leu369del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057547604",
      "coordinates": [
        {
          "allele": "",
          "end": 1448,
          "referenceAllele": "CCCCTGGAGCTTCTC",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1092_1106del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Leu365_Leu369del",
        "hgvsWellDefined": "NP_001341233.1:p.Leu365_Leu369del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}